Characterisation of the alpha-1-antitrypsin M3 gene, a normal variant.
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Graham A, Hayes K, Weidinger S, Newton CR, Markham AF, Kalsheker NA
Characterisation of the alpha-1-antitrypsin M3 gene, a normal variant.
Hum Genet. 1990 Aug;85(3):381-2.
- PubMed ID
- 2394452 [ View in PubMed]
- Abstract
By sequence analysis of the complete protein-coding region of the human alpha-1-antitrypsin gene using polymerase chain reaction techniques, we have characterised one of the normal variants, M3. We have identified a single point mutation between M1 Val213 and M3 at codon position 376 which is a GAA(Glu) to GAC(Asp) transversion.